Methodological Challenges for the Economic Evaluation of Genomic Newborn Screening: A Scoping Review
Author(s)
Sandrine Baffert, PhD1, Juliette Cottin, PharmD1, Thelma ARCELIN, MSc1, Camille Level, PhD2, Christel Thauvin, MD, PhD2, Laurence Faivre, MD, PhD2, Christine Binquet, MD, PhD2, Catherine Lejeune, PhD2.
1CEMKA, Bourg-la-Reine, France, 2CHU de Dijon, Dijon, France.
1CEMKA, Bourg-la-Reine, France, 2CHU de Dijon, Dijon, France.
OBJECTIVES: Genomic newborn screening (gNBS) holds promise for transforming early detection and management of rare pediatric diseases. By enabling simultaneous analysis of multiple genes, gNBS could dramatically shorten diagnostic odysseys, reduce long-term complications and lower healthcare costs. But economic evaluations of gNBS face several methodological challenges.
METHODS: We conducted a scoping review to identify and analyze the methodological approaches used in existing economic evaluations of gNBS. The objective was to inform the development of a standardized protocol by examining key aspects such as study design, structural modeling choices, and the assessment of infant quality of life.
RESULTS: Our review identified several methodological challenges in the economic evaluation of gNBS. First, the heterogeneity of screened conditions complicates modelling, as gNBS encompasses a wide range of diseases, each following a distinct care pathway rather than a single, uniform trajectory. Second, assessing health-related quality of life in infants and young children remains difficult due to age-appropriate measurement constraints. Third, there is no consensus on how to define health states or value pediatric health outcomes, leading to inconsistent approaches across studies. Fourth, most evaluations struggle to capture the full societal value of screening because their scope remains narrowly focused on direct medical costs. Finally, a persistent lack of long-term outcome data limits the ability to project lifetime benefits and costs. Drawing on these insights, we have formulated targeted methodological proposals to address each of these challenges.
CONCLUSIONS: Decision analysis and economic evaluations are valuable tools for informing decision makers about the balance between costs and benefits of expanding NBS of rare diseases. However, to be robust, they require high-quality evidence. Overcoming the identified methodological challenges is crucial for producing relevant assessments of the long-term health outcomes, costs, and quality of life associated with gNBS.
METHODS: We conducted a scoping review to identify and analyze the methodological approaches used in existing economic evaluations of gNBS. The objective was to inform the development of a standardized protocol by examining key aspects such as study design, structural modeling choices, and the assessment of infant quality of life.
RESULTS: Our review identified several methodological challenges in the economic evaluation of gNBS. First, the heterogeneity of screened conditions complicates modelling, as gNBS encompasses a wide range of diseases, each following a distinct care pathway rather than a single, uniform trajectory. Second, assessing health-related quality of life in infants and young children remains difficult due to age-appropriate measurement constraints. Third, there is no consensus on how to define health states or value pediatric health outcomes, leading to inconsistent approaches across studies. Fourth, most evaluations struggle to capture the full societal value of screening because their scope remains narrowly focused on direct medical costs. Finally, a persistent lack of long-term outcome data limits the ability to project lifetime benefits and costs. Drawing on these insights, we have formulated targeted methodological proposals to address each of these challenges.
CONCLUSIONS: Decision analysis and economic evaluations are valuable tools for informing decision makers about the balance between costs and benefits of expanding NBS of rare diseases. However, to be robust, they require high-quality evidence. Overcoming the identified methodological challenges is crucial for producing relevant assessments of the long-term health outcomes, costs, and quality of life associated with gNBS.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE577
Topic
Economic Evaluation, Epidemiology & Public Health
Disease
Pediatrics, Rare & Orphan Diseases